Hee Jeong Yoo
서울대학교 의과대학 · 신경과학
이 교수의 연구실은 주로 자폐 스펙트럼 장애(ASD)의 생물학적 기반을 규명하는 데 초점을 맞추고 있으며, 특히 미토콘드리아 기능 이상과 mtDNA 복제 수 증가가 ASD의 특정 증상, 특히 언어 및 사회성 기능과 연관이 있을 수 있음을 탐구하고 있습니다. ADHD와의 유전적·행동적 연관성 연구를 통해 정신발달장애의 공통된 생물학적 기초를 분석하고 있으며, 진단 도구의 표준화와 임상 적용 가능성에 대해서도 연구하고 있습니다. 특히 한국어 버전의 사회성 상호작용 평가도구(K-SCQ)의 신뢰성과 타당성 검증을 통해 국내 임상 현장에 적합한 진단 기반을 마련하고자 합니다.
표시된 성과는 수집된 데이터 기준으로 산출되며, 일부 차이가 있을 수 있습니다.
There were significant correlations between ADHD symptoms and Novelty Seeking. Current findings suggest that Novelty Seeking and ADHD share biogenetic backgrounds.
We evaluated the effect of OROS methylphenidate (MPH) on sleep quality and architecture in children with attention-deficit/hyperactivity disorder (ADHD) using both a parental sleep questionnaire and polysomnography. Twenty-four ADHD children who had no comorbid psychiatric or sleep disorders except for oppositional defiant disorder completed the 6-week, prospective, open-label, flexible-dose trial with OROS MPH (Concerta) monotherapy. After OROS MPH administration, the polysomnography data indic
Autism spectrum disorders (ASD) encompass a range of neurodevelopmental conditions that are clinically and etiologically very heterogeneous. ASD is currently diagnosed entirely on behavioral criteria, but intensive research efforts are focused on identifying biological markers for disease risk and early diagnosis. Here, we discuss recent progress toward identifying biological markers for ASD and highlight specific challenges as well as ethical aspects of translating ASD biomarker research into t
Mitochondrial dysfunction is considered one of the pathophysiological mechanisms of autism spectrum disorder (ASD). However, previous studies of biomarkers associated with mitochondrial dysfunction in ASD have revealed inconsistent results. The objective of this study was to evaluate biochemical markers associated with mitochondrial dysfunction in subjects with ASD and their unaffected family members. Lactate and pyruvate levels, as well as the lactate-to-pyruvate ratio, were examined in the per
Our findings suggest that mitochondrial dysfunction and elevated mtDNA copy number may be a biological subtype of ASD that is related to the phenotype for communication.
Objectives : The purposes of this study were to examine the reliability and validity of the Korean version of Social Communication Questionnaire (K-SCQ) and to determine cut-off scores for diagnosis of autism spectrum disorder (ASD). Methods : A total of 166 subjects with ASD and their 186 unaffected siblings were recruited through child psychiatry clinics of university hospitals. Board certified child psychiatrists screened all probands suspected to have ASD based on the Diagnostic and Statisti
Autism spectrum disorder (ASD) is a highly heritable condition caused by a combination of environmental and genetic factors such as de novo and inherited variants, as well as rare or common variants among hundreds of related genes. Previous genome-wide association studies have identified susceptibility genes; however, most ASD-associated genes remain undiscovered. This study aimed to examine rare de novo variants to identify genetic risk factors of ASD using whole exome sequencing (WES), functio
Autism spectrum disorder (ASD) is one of the most complex behavioral disorders with a strong genetic influence. The objectives of this article are to review the current status of genetic research in ASD, and to provide information regarding the potential candidate genes, mutations, and genetic loci possibly related to pathogenesis in ASD. Investigations on monogenic causes of ASD, candidate genes among common variants, rare de novo mutations, and copy number variations are reviewed. The current
These results demonstrate that polymorphisms in the <i>AVPR1A</i> promoter region might be involved in pathophysiology of ASD and in functional regulation of the expression of <i>AVPR1A</i>.